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MYO1A - myosin IA Gene

Also Known as BBMI; MIHC; MYHL; DFNA48

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4640

About MYO1A

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,028,517-57,051,198 (from NCBI)

This gene has 9 transcripts (splice variants), 122 orthologues, 43 paralogues and is associated with 1 phenotype. Biased expression in duodenum (RPKM 156.2), small intestine (RPKM 147.7) and 2 other tissues.

Summary

This gene encodes a member of the Myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]

MYO1A Products (2)

mRNA	Protein	Name
NM_001256041.2	NP_001242970.1	unconventional myosin-Ia
NM_005379.4	NP_005370.1	unconventional myosin-Ia

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	12736868	GOA
involved in vesicle localization	IMP IMP: Inferred from mutant phenotype	8692943	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	9858156	GOA
located in brush border	IDA IDA: Inferred from direct assay	9858156	GOA
located in cortical actin cytoskeleton	IDA IDA: Inferred from direct assay	8692943	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	9858156	GOA
part of filamentous actin	IDA IDA: Inferred from direct assay	9858156	GOA
located in lateral plasma membrane	IDA IDA: Inferred from direct assay	9858156	GOA
located in microvillus	IDA IDA: Inferred from direct assay	9858156	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYO1A Protein Structure

Myosin_head

Myosin_TH1

0
200
400
600
800
1000
1043 a.a.

Protein Preferred Names	Protein Names
unconventional myosin-Ia	brush border myosin I

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 48	DFNA48 Autosomal Dominant Nonsyndromic Deafness 48 Autosomal Dominant Deafness 48 Deafness, Autosomal Dominant, 48 Deafness Autosomal Dominant Due To Mutation In Myo1a Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48 Deafness, Autosomal Dominant, Type 48
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Deafness, Autosomal Recessive 37	DFNB37 Autosomal Recessive Nonsyndromic Deafness 37 Autosomal Recessive Deafness 37 Deafness, Autosomal Recessive, 37 Congenital Neurosensory Deafness Autosomal Recessive 37 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37 Deafness, Autosomal Recessive, Type 37
Deafness, Autosomal Dominant 22	DFNA22 Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy Autosomal Dominant Nonsyndromic Deafness 22 Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Autosomal Dominant Deafness 22 Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome DFNHCM Deafness, Autosomal Dominant, 22 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22 Deafness, Autosomal Dominant, Type 22 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22
Retinitis Pigmentosa 37	RP37 Retinitis Pigmentosa-37 Retinitis Pigmentosa, Type 37
Deafness, Autosomal Dominant 17	DFNA17 Autosomal Dominant Nonsyndromic Deafness 17 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 Autosomal Dominant Deafness 17 Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration Nonsyndromic Hereditary Deafness Dfna17 Deafness, Autosomal Dominant, 17 Cochleosaccular Degeneration Deafness, Autosomal Dominant, Type 17 Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts
Deafness, Autosomal Recessive 30	DFNB30 Autosomal Recessive Nonsyndromic Deafness 30 Autosomal Recessive Deafness 30 Deafness, Autosomal Recessive, 30 Deafness, Autosomal Recessive, Type 30
Autosomal Recessive Nonsyndromic Deafness 3	Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3 Dfnb3 Nrsd3 Deafness, Autosomal Recessive 3
Y-Linked Deafness	Dfny
Microvillus Inclusion Disease	Congenital Microvillous Atrophy Intractable Diarrhea Of Infancy Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities Davidson Disease Microvillous Inclusion Disease Congenital Microvillus Atrophy Mvid Diarrhea 2 With Microvillus Atrophy Mvd Congenital Familial Protracted Diarrhea Davidson'S Disease Familial Enteropathy, Microvillus Microvillus Atrophy, Congenital Congenital Enteropathy Familial Protracted Enteropathy Microvillous Atrophy Microvillus Atrophy With Diarrhea 2 Idi
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08937	MYO1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MYO1A	VGNC	VGNC:31816
Rattus norvegicus	MYO1A	RGD	RGD:3135
Felis catus	MYO1A	VGNC	VGNC:68388
Macaca mulatta	MYO1A	VGNC	VGNC:75110
Canis familiaris	MYO1A	VGNC	VGNC:43560
Mus musculus	MYO1A	MGD	MGI:107732
Others	MYO1A	NCBI